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  3. SIX2
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Fetal anomalies

Gene: SIX2

Green List (high evidence)
SIX2 (SIX homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000170577
EnsemblGeneIds (GRCh37): ENSG00000170577
OMIM: 604994, Gene2Phenotype
SIX2 is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 10 Mar 2026, 12:27 p.m. | Last Modified: 10 Mar 2026, 12:27 p.m.
Panel Version: 6.149
This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.150

Samantha Doyle (The National Maternity Hospital)

Green List (high evidence)

This gene is associated with frontonasal dysplasia phenotype. Prenatally features including frontal bossing, nasal clefting, craniosynostosis, ocular hypertelorism, anophthalmia, microphthalmia, flat nasal bridge. To date, affected cases have a deletion of varying sizes identified in affected individuals
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
frontonasal dysplasia

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • six2-related frontonasal dysplasia, MONDO:0044628
Tags
gene-checked
OMIM
604994
Clinvar variants
Variants in SIX2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Mar 2026, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: SIX2 were set to

19 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SIX2 were changed from frontonasal dysplasia to six2-related frontonasal dysplasia, MONDO:0044628

19 Mar 2026, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: SIX2.

10 Mar 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes frontonasal dysplasia for gene: SIX2

9 Mar 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: SIX2 was added gene: SIX2 was added to Fetal anomalies. Sources: Expert Review Green Mode of inheritance for gene: SIX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted